Canonical Allele Identifier: CA2697550211

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2753679
• ClinVar RCV Id: RCV003568948

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414297delinsGTGCACCCACAGGACAGCGTCCCCAGTGAG , CM000670.2:g.144414297delinsGTGCACCCACAGGACAGCGTCCCCAGTGAG	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1114delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC MANE Select	ENSP00000301305.4:p.Val372LeufsTer19
ENST00000276833.9:c.1039delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	ENSP00000276833.5:p.Val347LeufsTer19
ENST00000301305.7:c.1114delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	ENSP00000301305.3:p.Val372LeufsTer19
XM_006716599.1:c.1114delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	XP_006716662.1:p.Val372LeufsTer19
XM_011517153.1:c.832delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	XP_011515455.1:p.Val278LeufsTer19
XM_024447188.1:c.832delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	XP_024302956.1:p.Val278LeufsTer19
XM_024447189.1:c.832delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	XP_024302957.1:p.Val278LeufsTer19
NM_001374839.1:c.832delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	NP_001361768.1:p.Val278LeufsTer19
NM_017767.3:c.1039delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC	NP_060237.3:p.Val347LeufsTer19
NM_130849.4:c.1114delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC MANE Select	NP_570901.3:p.Val372LeufsTer19